Evidence map›Paper›PMID 36420423›Full record

ArticleMolecular genetics and metabolism reports2022

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.

Jessica R C Priestley, Lisa M Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P F Alves, Ian M Campbell, Sanmati R Cuddapah, Nicole M Engelhardt, Marina Eskandar, Paloma C Jolín García and 9 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
1.4field-weighted citation impact, top 19% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 17 citations in OpenAlex.

  1. Article
  2. MDH2 S246 phosphorylation protects mitochondria against hypoxia/reoxygenation injury due to acetate/lactate metabolism.The Korean journal of physiology & pharmacology : official journal of the Korean Physiological Society and the Korean Society of Pharmacology · 2026
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

19 authors at 8 institutions in 2 countries.

Jessica R C PriestleySection of Biochemical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Lisa M PaceDepartment of Pediatrics, University of Florida College of Medicine, Jacksonville, FL, USA.
Kuntal SenDivision of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Hospital, Washington D.C., USA.
Anjali AggarwalDivision of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA.
Cesar Augusto P F AlvesDivision of Neuroradiology, Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, USA.
Ian M CampbellDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Sanmati R CuddapahSection of Biochemical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Nicole M EngelhardtSection of Biochemical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Marina EskandarDivision of Child Neurology, Children's National Hospital, Washington D.C., USA.
Paloma C Jolín GarcíaSection of Biochemical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Andrea GropmanDivision of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Hospital, Washington D.C., USA.
Ingo HelbigDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Xinying HongDepartment of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Vykuntaraju K GowdaDepartment of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.
Laina LuskEpilepsy Neurogenetics Initiative, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Pamela TrapaneDivision of Pediatric Genetics, Department of Genetics, University of Florida College of Medicine, Jacksonville, FL, USA.
Varunvenkat M SrinivasanDepartment of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.
Pim SuwannaratGenetics, Kaiser Permanente MidAtlantic, Rockville, MD, USA.
Rebecca D GanetzkySection of Biochemical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Children's Hospital of Philadelphia · USChildren's National · USIndira Gandhi Institute of Child Health · INKaiser Permanente · USUniversity of Florida · USUniversity of Florida Health · USUniversity of Minnesota · USUniversity of Pennsylvania · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Malate dehydrogenases (MDH) serve a critical role in maintaining equilibrium of the NAD+/NADH ratio between the mitochondria and cytosol through the catalysis of the oxidation of L-malate to oxaloacetate in a reversible, NADH-dependent manner.

Indexed as

Epileptic encephalopathyLeigh syndromeMalate dehydrogenaseMDH2Mitochondrial malate dehydrogenaseTCA cycle

Identifiers

PMID36420423
PMCPMC9676216
OpenAlexW4309333415

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.